ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) (rs1258008817)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517847 SCV000613946 uncertain significance not specified 2016-12-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659759 SCV000781608 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730803 SCV000858566 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing

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